Canonical Allele Identifier: CA2740091742
Community Standard Title: NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551LeufsTer5)
Gene: PIK3R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295229_68295253del , CM000667.2:g.68295229_68295253del GRCh38
NC_000005.9:g.67591057_67591081del , CM000667.1:g.67591057_67591081del GRCh37
NC_000005.8:g.67626813_67626837del NCBI36
NG_012849.2:g.84474_84498del

Transcript Alleles

HGVS Amino-acid Change
NM_181523.3:c.1650_1674del MANE Select NP_852664.1:p.Lys551LeufsTer5
ENST00000521381.6:c.1650_1674del MANE Select ENSP00000428056.1:p.Lys551LeufsTer5
NM_001242466.1:c.561_585del NP_001229395.1:p.Lys188LeufsTer5
NM_001242466.2:c.561_585del NP_001229395.1:p.Lys188LeufsTer5
NM_181504.3:c.840_864del NP_852556.2:p.Lys281LeufsTer5
NM_181504.4:c.840_864del NP_852556.2:p.Lys281LeufsTer5
NM_181523.2:c.1650_1674del NP_852664.1:p.Lys551LeufsTer5
NM_181524.1:c.750_774del NP_852665.1:p.Lys251LeufsTer5
NM_181524.2:c.750_774del NP_852665.1:p.Lys251LeufsTer5
ENST00000320694.12:c.750_774del ENSP00000323512.8:p.Lys251LeufsTer5
ENST00000320694.13:c.750_774del ENSP00000323512.8:p.Lys251LeufsTer5
ENST00000336483.10:c.840_864del ENSP00000338554.5:p.Lys281LeufsTer5
ENST00000336483.9:c.840_864del ENSP00000338554.5:p.Lys281LeufsTer5
ENST00000517643.2:c.1650_1674del ENSP00000513333.1:p.Lys551LeufsTer5
ENST00000517698.5:c.*620_*644del ENSP00000430424.1:n.*620_*644del
ENST00000517698.6:c.*620_*644del ENSP00000430424.1:n.*620_*644del
ENST00000518813.5:n.2193_2217del
ENST00000520550.1:n.1049_1073del
ENST00000521381.5:c.1650_1674del ENSP00000428056.1:p.Lys551LeufsTer5
ENST00000521657.5:c.1650_1674del ENSP00000429277.1:p.Lys551LeufsTer5
ENST00000521657.6:c.1650_1674del ENSP00000429277.1:p.Lys551LeufsTer5
ENST00000522084.6:c.840_864del ENSP00000429766.2:p.Lys281LeufsTer5
ENST00000523872.1:c.561_585del ENSP00000430098.1:p.Lys188LeufsTer5
ENST00000697457.1:c.1575_1599del ENSP00000513315.1:p.Lys526LeufsTer5
ENST00000697458.1:c.1650_1674del ENSP00000513316.1:p.Lys551LeufsTer5
ENST00000697460.1:c.1125_1149del ENSP00000513318.1:p.Lys376LeufsTer5
ENST00000697461.1:c.1650_1674del ENSP00000513319.1:p.Lys551LeufsTer5
ENST00000697462.1:c.840_864del ENSP00000513320.1:p.Lys281LeufsTer5
ENST00000697463.1:n.1291_1315del
ENST00000697464.1:c.*616_*640del ENSP00000513322.1:n.*616_*640del
ENST00000697465.1:c.687_711del ENSP00000513323.1:p.Lys230LeufsTer5
ENST00000697466.1:c.657_681del ENSP00000513324.1:p.Lys220LeufsTer5
ENST00000697467.1:c.561_585del ENSP00000513325.1:p.Lys188LeufsTer5
ENST00000697468.1:c.633_657del ENSP00000513326.1:p.Lys212LeufsTer5
ENST00000697469.1:c.342_366del ENSP00000513327.1:p.Lys115LeufsTer5
ENST00000697470.1:c.246_270del ENSP00000513328.1:p.Lys83LeufsTer5
ENST00000697557.1:c.633_657del ENSP00000513335.1:p.Lys212LeufsTer5
XM_005248542.2:c.1650_1674del XP_005248599.1:p.Lys551LeufsTer5
XM_005248542.3:c.1650_1674del XP_005248599.1:p.Lys551LeufsTer5
XM_011543493.1:c.1323_1347del XP_011541795.1:p.Lys442LeufsTer5
XM_011543493.3:c.1323_1347del XP_011541795.1:p.Lys442LeufsTer5
XM_017009585.2:c.1650_1674del XP_016865074.1:p.Lys551LeufsTer5
XM_017009586.1:c.1377_1401del XP_016865075.1:p.Lys460LeufsTer5